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P56179

- DLX6_HUMAN

UniProt

P56179 - DLX6_HUMAN

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Protein

Homeobox protein DLX-6

Gene

DLX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi49 – 10860HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. anatomical structure formation involved in morphogenesis Source: Ensembl
  2. embryonic limb morphogenesis Source: Ensembl
  3. epithelial cell differentiation Source: Ensembl
  4. head development Source: Ensembl
  5. inner ear morphogenesis Source: Ensembl
  6. nervous system development Source: ProtInc
  7. palate development Source: Ensembl
  8. positive regulation of epithelial cell proliferation Source: Ensembl
  9. skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein DLX-6
Gene namesi
Name:DLX6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:2919. DLX6.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27374.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 175175Homeobox protein DLX-6PRO_0000049034Add
BLAST

Proteomic databases

PaxDbiP56179.
PRIDEiP56179.

PTM databases

PhosphoSiteiP56179.

Expressioni

Developmental stagei

First expressed in embryos at 8.5-9 days in facial and branchial arch mesenchyme, otic vesicles and frontonasal ectoderm around olfactory placodes, a day later expression is seen in the developing forebrain in primordia of the ganglionic eminence and ventral diencephalic regions. In day 12.5 embryos, expressed in the brain and bones, and also in all skeletal structures of midgestation embryos after the first cartilage formation, and expression progressively declines in both brain and skeleton in day 15 embryos.

Gene expression databases

BgeeiP56179.
CleanExiHS_DLX6.
ExpressionAtlasiP56179. baseline and differential.
GenevestigatoriP56179.

Organism-specific databases

HPAiHPA030608.

Interactioni

Protein-protein interaction databases

BioGridi108094. 1 interaction.
IntActiP56179. 1 interaction.
STRINGi9606.ENSP00000007660.

Structurei

3D structure databases

ProteinModelPortaliP56179.
SMRiP56179. Positions 46-106.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the distal-less homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG289877.
GeneTreeiENSGT00770000120486.
HOGENOMiHOG000231941.
HOVERGENiHBG005493.
InParanoidiP56179.
KOiK09314.
OMAiSPYLPSY.
OrthoDBiEOG70W3F8.
PhylomeDBiP56179.
TreeFamiTF315720.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P56179-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSHSQHSPYL QSYHNSSAAA QTRGDDTDQQ KTTVIENGEI RFNGKGKKIR
60 70 80 90 100
KPRTIYSSLQ LQALNHRFQQ TQYLALPERA ELAASLGLTQ TQVKIWFQNK
110 120 130 140 150
RSKFKKLLKQ GSNPHESDPL QGSAALSPRS PALPPVWDVS ASAKGVSMPP
160 170
NSYMPGYSHW YSSPHQDTMQ RPQMM
Length:175
Mass (Da):19,708
Last modified:January 11, 2001 - v2
Checksum:iF5552738D7E0CB84
GO
Isoform 2 (identifier: P56179-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MMTMTTMADG...HRSLAAYPYM

Show »
Length:265
Mass (Da):29,387
Checksum:iEBCA7528A559B068
GO
Isoform 3 (identifier: P56179-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MMTMTTMADG...HRSLAAYPYM

Show »
Length:293
Mass (Da):32,582
Checksum:i89F34C88E4C4E44F
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MMTMTTMADGLEGQDSSKSA FMEFGQQQQQQHSPAMAGAH YPLHCLHSAAAAAAAGSHHH HHHQHHHHGSPYASGGGNSY NHRSLAAYPYM in isoform 2. CuratedVSP_040732
Alternative sequencei1 – 11M → MMTMTTMADGLEGQDSSKSA FMEFGQQQQQQQQQQQQQQQ QQQQPPPPPPPPPQPHSQQS SPAMAGAHYPLHCLHSAAAA AAAGSHHHHHHQHHHHGSPY ASGGGNSYNHRSLAAYPYM in isoform 3. CuratedVSP_047248

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004774 Genomic DNA. Translation: AAC17832.1.
CH236949 Genomic DNA. Translation: EAL24122.1.
CH471091 Genomic DNA. Translation: EAW76744.1.
BC069363 mRNA. Translation: AAH69363.1.
BC103688 mRNA. Translation: AAI03689.1.
BC103689 mRNA. Translation: AAI03690.1.
BC103690 mRNA. Translation: AAI03691.1.
BC109381 mRNA. Translation: AAI09382.1.
AK094086 mRNA. Translation: BAG52812.1.
CCDSiCCDS47647.2. [P56179-3]
PIRiD53495.
RefSeqiNP_005213.3. NM_005222.3. [P56179-3]
UniGeneiHs.249196.

Genome annotation databases

EnsembliENST00000518156; ENSP00000428480; ENSG00000006377. [P56179-3]
GeneIDi1750.
KEGGihsa:1750.
UCSCiuc022ahu.1. human.

Polymorphism databases

DMDMi12644330.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004774 Genomic DNA. Translation: AAC17832.1 .
CH236949 Genomic DNA. Translation: EAL24122.1 .
CH471091 Genomic DNA. Translation: EAW76744.1 .
BC069363 mRNA. Translation: AAH69363.1 .
BC103688 mRNA. Translation: AAI03689.1 .
BC103689 mRNA. Translation: AAI03690.1 .
BC103690 mRNA. Translation: AAI03691.1 .
BC109381 mRNA. Translation: AAI09382.1 .
AK094086 mRNA. Translation: BAG52812.1 .
CCDSi CCDS47647.2. [P56179-3 ]
PIRi D53495.
RefSeqi NP_005213.3. NM_005222.3. [P56179-3 ]
UniGenei Hs.249196.

3D structure databases

ProteinModelPortali P56179.
SMRi P56179. Positions 46-106.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108094. 1 interaction.
IntActi P56179. 1 interaction.
STRINGi 9606.ENSP00000007660.

PTM databases

PhosphoSitei P56179.

Polymorphism databases

DMDMi 12644330.

Proteomic databases

PaxDbi P56179.
PRIDEi P56179.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000518156 ; ENSP00000428480 ; ENSG00000006377 . [P56179-3 ]
GeneIDi 1750.
KEGGi hsa:1750.
UCSCi uc022ahu.1. human.

Organism-specific databases

CTDi 1750.
GeneCardsi GC07P096634.
H-InvDB HIX0006871.
HGNCi HGNC:2919. DLX6.
HPAi HPA030608.
MIMi 600030. gene.
neXtProti NX_P56179.
PharmGKBi PA27374.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289877.
GeneTreei ENSGT00770000120486.
HOGENOMi HOG000231941.
HOVERGENi HBG005493.
InParanoidi P56179.
KOi K09314.
OMAi SPYLPSY.
OrthoDBi EOG70W3F8.
PhylomeDBi P56179.
TreeFami TF315720.

Miscellaneous databases

GeneWikii DLX6.
GenomeRNAii 1750.
NextBioi 35535511.
PROi P56179.
SOURCEi Search...

Gene expression databases

Bgeei P56179.
CleanExi HS_DLX6.
ExpressionAtlasi P56179. baseline and differential.
Genevestigatori P56179.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Neuroblastoma.
  6. Cited for: NUCLEOTIDE SEQUENCE OF 49-114.
    Tissue: Embryo.

Entry informationi

Entry nameiDLX6_HUMAN
AccessioniPrimary (citable) accession number: P56179
Secondary accession number(s): A4D1I2
, B3KSQ0, J3KR92, Q3ZAR6, Q9UPL2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 11, 2001
Last modified: November 26, 2014
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3